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Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial. [PDF]
Neurology, 2020 Madsen KL +16 more
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Duplications of Mitochondrial DNA in Mitochondrial Myopathy.
Lancet, The, 1989Restriction enzyme analysis was done on total cellular DNA extracted from whole blood in two patients with mitochondrial myopathy and multisystem involvement and their families. The two patients had an abnormal mitochondrial genome with a large (about 8 kb) duplication present in several tissues.
J Poulton, R Mark Gardiner, R M Gardiner
exaly +3 more sources
Annals of Neurology, 1985
AbstractMitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria.
DiMauro S. +4 more
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AbstractMitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria.
DiMauro S. +4 more
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Journal of the Neurological Sciences, 1981
Six clinically affected and 18 asymptomatic members of a six-generation family were investigated clinically, by estimation of serum CK levels, and in some cases by quantitative electromyographic techniques and muscle biopsy. It was concluded that the myopathy was probably inherited as an autosomal dominant trait with variable expression and incomplete ...
F, Mechler +3 more
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Six clinically affected and 18 asymptomatic members of a six-generation family were investigated clinically, by estimation of serum CK levels, and in some cases by quantitative electromyographic techniques and muscle biopsy. It was concluded that the myopathy was probably inherited as an autosomal dominant trait with variable expression and incomplete ...
F, Mechler +3 more
openaire +3 more sources
Acta Physiologica Scandinavica, 2001
The first description of a patient with mitochondrial myopathy and deficient respiratory chain function was reported by Luft and coworkers almost 40 years ago. Subsequent studies in the 1970s and 1980s relied on a combination of morphological and biochemical methods to identify patients with mitochondrial disorders.
N G, Larsson, A, Oldfors
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The first description of a patient with mitochondrial myopathy and deficient respiratory chain function was reported by Luft and coworkers almost 40 years ago. Subsequent studies in the 1970s and 1980s relied on a combination of morphological and biochemical methods to identify patients with mitochondrial disorders.
N G, Larsson, A, Oldfors
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Current Opinion in Rheumatology, 1994
Major new advances in the genetic and biochemical characterization of mitochondrial myopathies are discussed, within a general presentation of this important new area of human pathology. Mitochondrial disorders can be due to mutations in either nuclear or mitochondrial genes involved in the synthesis of individual respiratory chain subunits or in their
Zeviani M., Amati P., SAVOIA, ANNA
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Major new advances in the genetic and biochemical characterization of mitochondrial myopathies are discussed, within a general presentation of this important new area of human pathology. Mitochondrial disorders can be due to mutations in either nuclear or mitochondrial genes involved in the synthesis of individual respiratory chain subunits or in their
Zeviani M., Amati P., SAVOIA, ANNA
openaire +4 more sources